Global Variome shared LOVD

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Phenotype #0000357124 Individual ID 00472321 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDDFAC Phenotype details see paper; birth 41w; weight 17.8kg (SD-0.17), height 108.2cm (SD-0.02), OFC 50.5cm (SD+0.11); no gross motor delay; severe speech delay, 3y-first words, 5y-no sentences; moderate developmental delay; moderate intellectual disability; no epilepsy; autism traits (ASD); no behavioral issues; no hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet Inheritance Isolated (sporadic) Age/Examination 5.17y Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-02-03 11:21:20 +01:00 (CET) Date last edited N/A

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